ArticleNeuropsychopharmacology : official publication of the American College of Neuropsychopharmacology2011
Dopamine transporter gene variant affecting expression in human brain is associated with bipolar disorder.
Article in Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 2 of them syntheses that pooled it.
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Who cites it
73 citing papers in PubMed, 2 syntheses or guidelines pooled it, 147 citations in OpenAlex.
- Association study and a systematic meta-analysis of the VNTR polymorphism in the 3'-UTR of dopamine transporter gene and attention-deficit hyperactivity disorder.Journal of neural transmission (Vienna, Austria : 1996) · 2019Pooled it
- Functional effects of dopamine transporter gene genotypes on in vivo dopamine transporter functioning: a meta-analysis.Molecular psychiatry · 2014Pooled it
- Dopamine Transporter and Reward Anticipation in a Dimensional Perspective: A Multimodal Brain Imaging Study.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2018Trial
- Interacting effects of naltrexone and OPRM1 and DAT1 variation on the neural response to alcohol cues.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2013Trial
- A Four-Dimensional Model of Attention-Deficit/Hyperactivity Disorder: Toward Improved Recognition of Female ADHD.International journal of molecular sciences · 2026Review
- The Regulatory Potential of Long Non-Coding RNAs in Bipolar Disorder.International journal of molecular sciences · 2026Review
- Alpha-methyl-para-tyrosine and amphetamine ameliorate hyperactivity in a novel mouse model of dopamine transporter deficiency syndrome.EMBO molecular medicine · 2026Article
- Driven by Dopamine: Genetic Insights into Motivation and Performance in Sports and Esports.Genes · 2026Review
- Kappa opioid receptor antagonism restores phosphorylation, trafficking and behavior induced by a disease-associated dopamine transporter variant.Molecular psychiatry · 2025Article
- SLC6A3 gene methylation may be associated with alcohol use disorder, but personality and life stress may not influence methylation.CNS spectrums · 2025Article
- Dopamine transporter endocytic trafficking: Neuronal mechanisms and potential impact on DA-dependent behaviors.Journal of neurochemistry · 2025Review
- Association of HHV‑6 reactivation and SLC6A3 (C>T, rs40184), BDNF (C>T, rs6265), and JARID2 (G>A, rs9383046) single nucleotide polymorphisms in depression.Biomedical reports · 2024Article
- Doxycycline reversal of amphetamine-induced mania-like behavior is related to adjusting brain monoamine abnormalities and antioxidant effects in primary hippocampal neurons.Naunyn-Schmiedeberg's archives of pharmacology · 2024Article
- The Relationship between Gene SLC6A3 Variable Number of Tandem Repeat (VNTR) and Attention-Deficit/Hyperactivity Disorder.Iranian journal of psychiatry · 2024Article
- Cerebral chemoarchitecture shares organizational traits with brain structure and function.eLife · 2023Article
- Article
- Molecular Characterisation of the Mechanism of Action of Stimulant Drugs Lisdexamfetamine and Methylphenidate on ADHD Neurobiology: A Review.Neurology and therapy · 2022Review
- Association of Polymorphism within the Putative miRNA Target Site in the 3'UTR Region of theInternational journal of environmental research and public health · 2022Article
- Assessing positive and negative valence systems to refine animal models of bipolar disorders: the example of GBR 12909-induced manic phenotype.Scientific reports · 2022Article
- Functional SLC6A3 polymorphisms differentially affect autism spectrum disorder severity: a study on Indian subjects.Metabolic brain disease · 2022Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
The gene encoding the dopamine transporter (DAT) has been implicated in CNS disorders, but the responsible polymorphisms remain uncertain. To search for regulatory polymorphisms, we measured allelic DAT mRNA expression in substantia nigra of human autopsy brain tissues, using two marker SNPs (rs6347 in exon 9 and rs27072 in the 3'-UTR). Allelic mRNA expression imbalance (AEI), an indicator of cis-acting regulatory polymorphisms, was observed in all tissues heterozygous for either of the two marker SNPs. SNP scanning of the DAT locus with AEI ratios as the phenotype, followed by in vitro molecular genetics studies, demonstrated that rs27072 C>T affects mRNA expression and translation. Expression of the minor T allele was dynamically regulated in transfected cell cultures, possibly involving microRNA interactions. Both rs6347 and rs3836790 (intron8 5/6 VNTR) also seemed to affect DAT expression, but not the commonly tested 9/10 VNTR in the 3'UTR (rs28363170). All four polymorphisms (rs6347, intron8 5/6 VNTR, rs27072 and 3'UTR 9/10 VNTR) were genotyped in clinical cohorts, representing schizophrenia, bipolar disorder, depression, and controls. Only rs27072 was significantly associated with bipolar disorder (OR = 2.1, p = 0.03). This result was replicated in a second bipolar/control population (OR = 1.65, p = 0.01), supporting a critical role for DAT regulation in bipolar disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.